Sengers Syndrome is a rare mitochondrial disorder. Its manifestations may be present at or soon after birth.
Chromosome: 7q34
Gene: acylglycerol kinase (AGK)
Acylglycerol kinase is a mitochondrial membrane protein and a subunit of the TIM22 protein import complex. It is involved in glycolipid and lipid metabolism and catalyzes the formation of lysophosphatidic and phosphatidic acids.
Inheritance: autosomal recessive
Clinical features include:
(1) hypertrophic cardiomyopathy
(2) congenital cataracts
(4) skeletal myopathy with exercise intolerance
(5) lactic acidosis
(6) normal mental development
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